Understanding D4Z4 and Muscle Weakness in FSHD
D4Z4 Coding Transcripts and FSHD
['FUNDING_R01'] · FRED HUTCHINSON CANCER CENTER · NIH-10992611
This research aims to understand how a specific gene, DUX4, causes muscle damage in people with Facioscapulohumeral dystrophy, or FSHD.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | FRED HUTCHINSON CANCER CENTER (nih funded) |
| Locations | 1 site (SEATTLE, UNITED STATES) |
| Trial ID | NIH-10992611 on ClinicalTrials.gov |
What this research studies
Facioscapulohumeral dystrophy (FSHD) happens when a gene called DUX4 is active in muscle cells, leading to muscle weakness. This project focuses on how DUX4 creates harmful protein-RNA complexes inside muscle cells. We want to identify what these complexes are made of and how they cause damage. By understanding these processes, we hope to find new ways to stop the muscle damage in FSHD.
Who could benefit from this research
Good fit: This foundational research is for anyone affected by Facioscapulohumeral dystrophy (FSHD) who hopes for future treatment advancements.
Not a fit: Patients with conditions other than Facioscapulohumeral dystrophy (FSHD) would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could reveal new targets for medications to prevent or treat muscle damage in individuals with FSHD.
How similar studies have performed: While DUX4's role in FSHD is known, this project explores novel mechanisms of cell toxicity through specific ribonucleoprotein complexes.
Where this research is happening
SEATTLE, UNITED STATES
- FRED HUTCHINSON CANCER CENTER — SEATTLE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: TAPSCOTT, STEPHEN J — FRED HUTCHINSON CANCER CENTER
- Study coordinator: TAPSCOTT, STEPHEN J
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions: DNA Injury